Kramer, Alwin, Reiter, Andreas, Kruth, Jens, Erben, Philipp, Hochhaus, Andreas, Muller, Martin, Cross, Nicholas C., Jones, Amy V., Ho, Anthony D. and Hensel, Manfred (2007) JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia13. The Lancet Oncology, 8 (7), 658-660. (doi:10.1016/S1470-2045(07)70206-1).
Abstract
In July, 2000, a 50-year-old man presented with leukocytosis and splenomegaly (21 cm). Leucocyte concentration was 93×109/L, haemoglobin 150 g/L, and platelets 345×109/L (figure 1). A differential blood count showed 54% neutrophils, 2% lymphocytes, 13% myelocytes, 7% metamyelocytes, 2% promyelocytes, 1% blasts, and 7% basophils. Lactate dehydrogenase (LDH) concentration was increased at 484 U/L. 17 months previously, the blood count had been in the normal range. Bone-marrow aspiration was dry and bone-marrow biopsy showed marked myeloid hyperplasia, increased megakaryopoiesis, and the beginning of fibrosis. Cytogenetic analysis revealed a chromosome translocation (t[9;22][q34;q11]) in all ten metaphases examined. Expression of B3A2 BCR-ABL mRNA was detected by reverse transcriptase polymerase chain reaction (RT-PCR) in peripheral-blood leucocytes.
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